Analysis Tools|
Allele Symbol Allele Name Allele ID |
Aplp2tm1Dbo targeted mutation 1, David R Borchelt MGI:2137246 |
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| Summary |
14 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at P0, presynaptic and postsynaptic terminal distribution is diffuse and nerve terminal sprouting occurs unlike in wild-type mice that is not as severe as in Aplp2tm1Dbo Apptm1.2Zhe double homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E16.5, endplate band width and number are increased compared to in wild-type mice but not as severely as in Aplp2tm1Dbo Apptm1.2Zhe double homozygotes
• at P0, presynaptic and postsynaptic terminal distribution is diffuse and nerve terminal sprouting occurs unlike in wild-type mice that is not as severe as in Aplp2tm1Dbo Apptm1.2Zhe double homozygotes
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• reduced frequency
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E16.5, endplate band width and number are increased compared to in wild-type mice that is as severe as in Aplp2tm1Dbo Apptm1.2Zhe double homozygotes
• at P0, presynaptic and postsynaptic terminal distribution is diffuse and nerve terminal sprouting occurs unlike in wild-type that is as severe as in Aplp2tm1Dbo Apptm1.2Zhe double homozygotesmice
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• reduced frequency
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most homozygotes die by 21 days of age
• born in normal numbers
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• wider than in controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most homozygotes die by 21 days of age
• born in normal numbers
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E16.5, endplate band width and number are increased compared to in wild-type mice
• at P0, presynaptic and postsynaptic terminal distribution is diffuse and nerve terminal sprouting occurs unlike in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• incomplete penetrance, 80% of mice die within one week of birth
• lethality is not due to cardiopulmonary function as the heart and lungs appeared normal
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• no abnormalities in ovaries and testis, indicating that physiological or behavioral correlates, rather than anatomical aspects, are responsible for decrease in fertility
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• most pups have little or no milk in stomach, however no lesions in the face, palate, esophagous, stomach, intestine, or colon were seen and cranial nerves implicated in feeding appeared normal
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• by 12-36 hours after birth, double homozygous mice appear weaker, however mice exhibit normal muscle histology, abundant lower motor neurons in the ventral horn of spinal cords, and normal neuromuscular transmission
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• survivors lag behind in growth and are 20-30% smaller, even into adulthood, compared to controls
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• at E14.5, acetylcholine receptor clusters are less robust compared to in control mice
• however, prepatterned acetylcholine receptors are distributed along the central region
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no defect detected grossly or microscopically
• no animals survive to weaning age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no obvious defect detected grossly or microscopically
• mice were born at normal Mendelian frequency (29% of 171 animals), but no surviving double mutants were found at P1, indicating that a combined deficiency results in lethality within the first day after birth
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although born in Mendelian ratios, few mice survive to adulthood
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• neuromuscular junction exhibit mislocalization of choline transporters and reduced synaptophysin staining compared with wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although born in Mendelian ratios, no mice survive to weaning
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Neuromuscular synapse defects in Apptm3.1Zhe/Apptm3.1Zhe Aplp2tm1Dbo/Aplp2tm1Dbo mice
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• although born in Mendelian ratios, few mice survive to adulthood
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• neuromuscular junction exhibit mislocalization of choline transporters compared with wild-type mice
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 12/10/2024 MGI 6.24 |
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